Canonical Allele Identifier: CA394486622

Gene: MEFV

Linked Data

• MyVariant Identifiers: chr16:g.3293452T>A (hg19) ; chr16:g.3243452T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3243452T>A , CM000678.2:g.3243452T>A	GRCh38
NC_000016.9:g.3293452T>A , CM000678.1:g.3293452T>A	GRCh37
NC_000016.8:g.3233453T>A	NCBI36
NG_007871.1:g.18176A>T , LRG_190:g.18176A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697124.1:n.1156A>T
ENST00000219596.6:c.2035A>T MANE Select	ENSP00000219596.1:p.Asn679Tyr
ENST00000219596.5:c.2035A>T	ENSP00000219596.1:p.Asn679Tyr
ENST00000339854.8:c.1495A>T	ENSP00000339639.4:p.Asn499Tyr
ENST00000536379.5:c.1402A>T	ENSP00000445079.1:p.Asn468Tyr
ENST00000536980.5:c.*311A>T	ENSP00000444178.1:n.*311A>T
ENST00000537682.5:c.*311A>T	ENSP00000438611.1:n.*311A>T
ENST00000538326.5:c.*660A>T	ENSP00000437486.1:n.*660A>T
ENST00000539145.5:c.956A>T	ENSP00000444471.1:n.956A>T
ENST00000541159.5:c.1577A>T	ENSP00000438711.1:n.1577A>T
ENST00000542898.5:c.*311A>T	ENSP00000444615.1:n.*311A>T
ENST00000570511.5:c.1440A>T	ENSP00000458312.1:n.1440A>T
ENST00000572244.5:c.725A>T	ENSP00000461186.1:n.725A>T
ENST00000574583.5:c.807A>T	ENSP00000460269.1:n.807A>T
ENST00000576315.5:c.840A>T	ENSP00000460551.1:n.840A>T
ENST00000621655.1:c.1572A>T	ENSP00000481436.1:n.1572A>T
NM_000243.2:c.2035A>T , LRG_190t1:c.2035A>T	NP_000234.1:p.Asn679Tyr
NM_001198536.1:c.*239A>T	NP_001185465.1:n.*239A>T
XM_017023236.2:c.2032A>T	XP_016878725.1:p.Asn678Tyr
NM_000243.3:c.2035A>T MANE Select	NP_000234.1:p.Asn679Tyr
NM_001198536.2:c.*239A>T	NP_001185465.2:n.*239A>T